Human Genetics

The intellectual exchange between human genetics and biomedical science has produced some of the most important and fruitful scientific discoveries of the past 50 years. The advances in human genetics and genomics made possible by the Human Genome Project and its aftermath have revolutionized the way scientific investigation is carried out in the areas of human disease and its animal models. In addition, the elucidation of the genetic contribution to literally thousands of human diseases has provided innumerable fundamental insights into normal biological function.

Many laboratories at UCSF use genetic approaches to untangle problems as diverse as infertility, cancer, adverse drug reactions, asthma, autism, birth defects, neurological diseases, obesity, diabetes and many others. Our faculty are leaders in the development of cutting-edge genome technologies including microarrays, comparative genome hybridization (CGH), whole-genome sequencing, population genetics, genetic epidemiology and computational genomics. They also use model organisms to discover and explore fundamental pathways that can lead to human disease.

All entering BMS Students take a core Genetics course (BMS 255) and can opt to take a seminar course BMS270 entitled “Disease Discovery through the Lens of Genetics” offered every other spring. Through the UCSF Institute for Human Genetics, students can interact with numerous genetic-oriented faculty and attend monthly genetic and genomic technology seminars.

External Links:

Participating Faculty

Ross Okimoto, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Okimoto lab aims to understand how transcriptional dysregulation leads to cancer growth and metastasis.

Louis Ptacek, MD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Neurobiology
Research Summary: 
Genetics and biology of human nervous system disorders

Jennifer Puck, MD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Inherited disorders of lymphocyte development
Mentorship Development: 

5/25/21 Sharpening your Mentoring Skills (SyMS) 

Aleksandar Rajkovic, PhD, MD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics

Vijay Ramani, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Cancer Biology & Cell Signaling
Research Summary: 
Our lab develops new genome-scale methods to study mammalian chromatin structure and transcriptional regulation

Neil Risch, PhD, MS

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Human Genetics, Population Genetics, Statistical Genetics, Genetic Epidemiology

Davide Ruggero, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Dynamics of translation control in gene expression, cancer, and disease

Julie Saba, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Sphingolipid signaling and metabolism in the pathophysiology and treatment of cancer, inflammatory conditions, and rare diseases

Carolyn Sangokoya, MD, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Using functional + spatial molecular tools to study post-transcriptional RNA + metabolic networks at single cell resolution and in 3D; Re-engineering/re-wiring cell fates for regenerative therapies

Licia Selleri, PhD, MD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Genetic and regulatory control of morphogenesis in embryonic development, evolution, and disease
Mentorship Development: 

5/2021 Sharpening Your Mentoring Skills
6/2021 Promoting Learner Mental Health
10/2021 Sharpening Your Mentoring Skills

Hunter Shain, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Our overarching goal is to understand the biology of skin cancer with an emphasis on melanoma and squamous cell carcinoma.

Kevin Shannon, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Aberrant Ras Signaling in Development and Cancer

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